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Updated: Feb 25, 2026

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关节结症多重复合先天性的遗传基础

Judith Melki1

  • 1Institut National de la Santé et de la Recherche Médicale (INSERM), UMR 1195, Université Paris Saclay, Le Kremlin Bicêtre, France;

Annual review of genomics and human genetics
|February 23, 2026
PubMed
概括

综合性先天性关节缩症 (AMC) 涉及由于胎儿运动减少而导致的关节收缩. 基因诊断对于管理这种异质性疾病至关重要,这种疾病通常与骨肌肉问题有关.

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